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Home , Carpenter syndrome, Cherubism, Donohue syndrome, Maffucci syndrome, Myotonic dystrophy

AN INDEX OF SYNDROMES AND THEIR ANAESTHETIC IMPLICATIONS

ANNE E.P. JONES AND D.A. PELTON

PATIENTS often present for anaesthesia and surgery having been "labelled" with a diagnosis of some eponymous or rare syndrome. This index is an attempt to cata- logue as many syndromes as possible which have anaesthetic implications and to give an indication of their main features. It is hoped that it will be useful as a ready reference especially for those involved in paediatric anaesthesia, as many of these patients present in infancy or childhood. The information is presented in tabular form with a cross index of alternative names. Where possible anaesthetic references are given. Where no anaesthetic references exist those given refer to descriptive literature.

SYnvno~Es Name Description Anaesthetic Implications Adrenogenital syndrome Inability to synthesize All need hydrocortisone even if not salt- hydrocortisone. Viriliza- losing. Check electrolytes ( 1 ) tion of female Albers-SchtJnberg Brittle bones, pathologi- Anaemia from marrow sclerosis. Hepa- disease (marble bone cal fractures tos~lenomegaly. Care in positioning disease or ) and restraint ( 2 ) Albright-Butler Renal tubular acidosis Correct electrolytes to within normal syndrome hypokalaemia. Renal Limits. Renal impairment (3) calculi Albright's osteo- Ectopic bone formation. Hypocalcaemia - possible ECG conduc- (pseudo- Mental retardation tion defects, neuromuscular problems. hypoparathyroidism ) Convulsions (4)

Alport syndrome Nephritis and nerve deaf- Renal failure in 2nd--Srd decade. Care ness. Renal with renally excreted drugs (6) variable

Alstr6m syndrome , blindness by Renal impairment. Management of seven years. Hearing loss. and obesity Diabetes after puberity - glomerulosclerosis Amyotonia congenita Anterior horn cell Sensitive to thiopentone ( reduced ( infantile muscular degeneration muscle mass ) and respiratory depress- ) ants. Care with muscle relaxants (7-10)

Anne E.P. Jones, M.B., B.S., F.F.A.R.C.S. (Fellow), D.A. Pelton, M.D., F.R.C.P. (C) (Senior Anaesthetist) Department of Anaesthesia, The Hospital for Sick Children, Toronto and The University of Toronto. Our grateful thanks are due to Miss Sheree Coates for her secretarial assistance. 207 Canad. Anaesth. See. J., vol. 23, no. 2, March 1976 208 CANADIAN ANAESTHETISTS'SOCIETY JOURNAL Name Description Anaesthetic Implications Amyotropic lateral Degeneration of motor Avoid succinylcholine. Possible K + sclerosis neurones release and cardiac arrest. Minimal thiopentone and curare. Avoid respira- tory depressants ( 11 )

Analbuminaemia Almost absent albumin Very sensitive to bound drugs 4-100 mg~; including thiopentone, coumarin anti- coagulants, curare

Andersen's disease Debrancher enzyme Possibility of hypoglycaemia under ( Glycogen storage deficiency anaesthesia disease IV)

Aperts syndrome (acro- Difiqcult intubation. Possibly raised cephalosyndactyly) intracranial pressure, associated con- genital heart disease ( 13 ) hrthrogryposis Multiple congenital Ten per cent have congenital heart multiplex contractures disease. Minimal thiopentone required

- muscles replaced by fat. Possible air- way problem with (14)

Asplenia syndrome Absent spleen, bilateral Very complex cardiovascular anomalies, visceral right sidedness present with cyanosis and heart failure (15)

Ataxia- Cerebellar ataxia. Skin Defective immunity - recurrent chest and conjunctival telan- and sinus infections. Bronchiectasis giectasia. Decreased (16) serum IgA and IgE. 10 per cent develop reticule- endothelial malignancy

Beckwith syndrome Birth weight > 4,000 gm Persistent severe neonatal hypoglycae- (infantile gigantism ) macroglossia and mia. Airway problems ( 17, 18 ) exomphalos

Blackfan-Diamond Congenital idiopathic Liver and spleen enlarged. Hypersplen- syndrome red cell aplasia ism thrombocytopenia. Steroid therapy required ( 19 )

Bowen's syndrome Hepatomegaly and neo- Hypoprothrombinaemia. Care with ( eerebrohepatorenal natal jaundice. Polycystic renally excreted drugs and muscle syndrome) kidneys. Associated con- relaxants (20) genital heart disease. Muscular

Carpenter's syndrome Cranial synostosis. Hypoplastic mandible. Possibly difficult Associated congenital intubation (13) heart disease

Central core disease See amyotonia congenita (7-10)

Chediak-Higashi Partial albinism Steroid tberapy. Recurrent chest infec- syndrome immunodeficiency tion. Thrombocytopenia - may require hepatosplenomegaly platelets ( 21 ) ~IONES & PELTON: INDEX OF SYNDROMES 209

Name Description Anaesthetic Implications Tumourous lesion of Intubation may be extremely difficult. and maxillae May require tracheostomy for acute with intraoral masses. respiratory distress. Profuse bleeding at May cause respiratory surgery ( 22 ) distress

Chotzen syndrome Craniosynostosis May be difficult intubation. Associated renal anomalies and possible impaired renal excretion of drugs (13)

Christ-Siemens Absent sweating - heat Cannot control temperature by sweat- Touraine syndrome intolerance ing. Persistent upper respiratory and ( anhidrotic ectodermal chest infection due to poor mucus for- dysplasia) mation (23)

Chronic granulomatous Inherited disorder of Hepatomegaly in 95 per cent. Poor pul- disease leucocyte function. monary function. Avoid infection-strict Recurrent infections with asepsis ( '24 ) non-pathogenic organisms

Collagen diseases: Systemic connective Often have pulmonary infiltration or dermatomyositis, diseases frequently fibrosis. May have temporomandibular rheumatoid arthritis, treated with steroids. or cricoarytenoid arthritis causing air- systemic lupus Osteoporosis and fatty way and intubation difficuhies. Anae- erythematosus, infiltration of muscle. mia common. Risk of fat embolism after polyarteritis nodosa Variable systemic osteotomy, fracture or minor trauma involvement (5, 86, 87)

Conradfs syndrome wifla Problems are those of associated renal contractures, saddle nose, and cardiac disease (25) mental retardation. As- sociated congenital heart disease and renal anomalies

Cretinism Absent thyroid tissue or Airway problems - large tongue, goitre. ( congenital defective synthesis Respiratory centre very sensitive to de- hypothyroidism ) thyroxine and goitre pression. CO 2 retention common. Hypo- glycaemia, hyponatraemia, hypoten- sion. Low cardiac output. Transfusion poorly tolerated ( 26 )

Cri-Du-Chat syndrome Chromosome 5-P abnor- Airway problems - stridor, laryngoma- mal. Abnormal cry, lacia. Possibly difficult intubation (27) microcephaly microgna- thia. Congenital heart disease

C,'ouzon disease Craniosynostosis Possibly difficult intubation. Severe blood loss with cranial operation (13)

Cutis laxa Elastic fibre degeneration Pulmonary infection, emphysenaa and pendulous skin, frequent corpulmona]e. Poor tissues - I.V. dif- hernias. Emphysema and ficult to maintain. Excess of soft tissues cor-pulnaonale. Arterial around larynx may lead to respiratory fragility obstruction ( 28, 29) 210 CANADIAN ANAESTHETISTS'SOCIETY JOURNAL

Name Description Anaesthetic Implications Di George's syndrome Absent thymus and para- Recurrent chest infections. Hypopara- ( 3rd & 4th Arch thyroids. Immune de- thyroidism. Low Ca + + and tetany. syndrome ) ficiency. Susceptibility to Stridor. Aortic arch abnormalities and fungal and viral infec- reduced cardiac output. Donor blood tions. Treated by foetal must be irradiated with 3000 rads to thynfie transplants prevent graft-versus-host reaction (30)

Down's syndrome Microcephaly. Small Difficult airway - large tongue, small ( mongolism ) nasopharynx. Hyptonia. mouth. Risk of laryngeal spasm especi- Sixty per cent have con- ally on extubation. Problems of cardiac genital heart disease. anomalies (31, 27 ) Duodenal atresia in some. Cervical spine abnor- malities

Duchenne muscular Muscular dystrophy with As for Amyotonia congenitaplus cardiac dystrophy frequent cardiac muscle involvement. Minimal drug dosage. involvement. Usually die Avoid respiratory depressants, muscle in 2nd decade relaxants. Post-operative I.P.P.V. may be required (7-10)

Edward's syndrome Congenital heart disease Possible difficult intubation. Care with (Trisomy 18(E)) in 95 per cent. Microgna- renally excreted drugs (27) thia in 80 per cent. Renal malformations 50-80 per cent. Usually die in infancy

Ehlers-Danlos Collagen abnormality CVS - spontaneous rupture of vessels. syndrome with hyperelasticity and Angiogram 1 per cent mortality. ECG fragile tissues. Dissecting conduction abnormalities. I.V. difficult aneurysm of aorta. to maintain - haematoma. Poor tissues Fragility of other blood and clotting defect lead to haemorrhage vessels. Bleeding dia- especially G.I. tract. Spontaneous thesis ? cause pneumothorax ( 28, 29 )

Ellis-Van-Creveld Ectodermal defects, Chest wall anomalies lead to poor lung syndrome skeletal anomalies. 50 function. May have abnormal ( Chondroectodermal per cent have congenital and upper lip, hepatosplenomegaly dysplasia ) heart disease, usually (32) septal

Epidermolysis Erosions and blisters Airway - oral lesions, adhesion of bullosa from minor skin trauma tongue. Ketamine is recommended or use small oral tube to avoid laryngeal trauma. Avoid skin tramna from tapes. History of steroid therapy. Check for porphyria. ( Similar skin lesions) (33)

Fabry's disease Lipid storage disease CVS - hypertension, myocardial ischae- mia ( before 3rd or 4th decade ). Renal failure - care with renally excreted drugs

Familial periodic Muscle disease. Hypo- Monitor serum K+. Limit use of dex- paralysis kalaemia, attacks of trose Monitor ECG. Avoid relaxants quadriplegia (35) JONES & PELTON: Ia'VDEXOF SYNDROMES 211

Name Description Anaesthetic Implications Faneoni syndrome Usually 2 ~ to other Impaired renal function. Treat electro- ( renal tubular acidosis) disease. Proximal tubular lyte and acid-base abnormalities. Look defect. Acidosis K + loss, for 1 ~ disease (galactosaemia, cysti- dehydration nosis, etc. ) ( 3, 36)

Farber's disease Sphingomyelin deposi- Deposits in larynx - careful intubation. ( lipogranulomatosis ) tion. Widespread visceral Generalized systemic involvement lead- lipogranulomas especially ing to cardiac, renal failure (37, 29) in the central nervous system Favism G-6-P-D deficiency. Haemolysis following oxidant drugs, Haemolytic anaemia (e.g.A.S.A. and sulphas ). Anaemia - transfuse if necessary ($7)

Freidreich's ataxia Degeneration of cerebel- Heart failure and . Care lum, lateral and posterior with cardiac depressant drugs column of spinal cord. Scoliosis. Myocardial degeneration and fibrosis Gardner's syndrome Multiple polyposis, bony No anaesthetic problems described (38) tumours, sebaceous , fibromas

Gaucher's disease Cerebroside accumula- Pulmonary disease from aspiration tion in CNS, liver, spleen, (pseudobulbar palsy). Hepatospleno- etc. megaly, hypersplenism may cause pla- telet deficiency ( 34 )

Glanzmann's disease Platelet ADP. reduced - No specific therapy for bleeding. Plate- ( thrombasthenia ) abnormal fimction let transfusion disappointing. History of steroids ( 39 )

Goldenhar syndrome Unilateral facial hypo- Difl~cu/t airway and intubation. Prob- ( oculo-auriculo- lasia. Congenital heart lems of associated cardiac disease (91) vertebral syndrome ) sease in 20 per cent. Sixty per cent mandibu- lar hypoplasia

Goltz-Gorlin syndrome Herniae, prolapse, etc. Asymmetry of head - dilBcult airway (focal dermal Congenital heart disease (40) hypoplasia ) - A.S. or A.S.D. Renal anomalies

Gorlin syndrome Basal cell naevi, skeletal No anaesthetic problem described (40) anomalies Groenblad-Strandberg Degeneration elastic Rupture of arteries, especially G.I, (~seudoxanthoma tissue in skin, eye and tract, hypertension, arterial calcification. elasticum) cardiovascular system Occlusion cerebral, coronary, arteries. Di~cult maintenance of I.V. cannula (29) Guillain-Barr6 syn- Acute polyneuropathy Avoid succinylcholine for at least drome (acute idiopathic Progressive peripheral 3/12 - K+ release. May require tra- polyneuritis ) neuritis often involving cheostomy and IPPV, support of blood cranial nerves, bulbar pressure ( 41, 42) palsy with hypoventila- tion and hypotension 212 CANADIAN ANAESTHETISTS SOCIETY JOURNAL

Nam~ Description Anaesthetic Implications Hand-Sehfiller Histiocytic granulomata Laryngeal fibrosis. Pulmonary - diffuse Christian in bones and viscera - or hilar infiltration. Respiratory failure, ( histiocytosis X ) larynx, lungs, liver and cor pulmonale. Hypersplenism and spleen pancytopenia. Liver involvement. Dia- betes insipidus if se]la turcica involved. History of steroids (43)

Hermansky syndrome Albinism, bleeding Platelet abnormality. Try platelet trans- diathesis fusion. No specific treatment

Holt-Oram syndrome Upper limb abnormali- Problems of cardiac defect. No other ( heart-hand syndrome) ties. Congenital heart anaesthetic problem (44) disease normally ASD. Possibly sudden death from pulmonary embolus, coronary occlusion

Homocystinuria Inborn error of metab- Dextran-70 to reduce viscosity and pla- olism. Thromboembolic telet adhesiveness, increase peripheral phenomena due to intimal perfusion. Angiography may precipi- thickening. Ectopia ]en- tate thrombosis especially cerebral tis, osteoporosis ( 45, 46, 29 ) kyphoscoliosis

Hunter syndrome Stiff joints, dwarfing, Upper airway obstruction due to infil- ( mueopolysaccharidosis hepatosp]enomegaly. tration of lymphoid tissue and larynx. If) Pectus excavatum and Pneumonias. Possible hypersplenism. kyphoscoliosis. Valvular Cardiac failure ( 29, 37) and coronary heart disease

Hurler syndrome Puhnonary hypertension. As for Hunter, but more severe. Fre- (mucopolysaccharidosis Usually die before ten quent upper respiratory infection. Ab- I) ,/ from respiratory normal tracheobronchial . and cardiac failure Severe coronary artery disease at early age, valvular and myocardial involve- ment ( 29, 37 )

JervelI-Nielson Cardiac conduction Syncope, arrhythmias. ECG-large T syndrome defects. Deafness waves prolonged QT. May need digoxin ( cardio-auditory and/or propranolol or pacemaker (47) syndrome)

Kartagener's syndrome Dextrocardia, sinusitis Chronic respiratory infection (48) and bronchiectasis. Ab- normal immunity. See Asplenia syndrome Kasabach-Merritt Haemangioma and Haemangioma suddently increases in syndrome thrombocytopenia. size with associated severe tbrombo- Average age at deatb five cytopenia and haemorrhage. Replace weeks blood loss, transfuse platelets. Splenec- tomy. Steroids (49)

Klinefelter syndrome Tall stature, reduced No described anaesthetic problem. Care ( gonosomal intelligence. Vertebral in positioning ( 27 ) aneuploidy ) collapse due to osteoporosis JONES & PELTON: INDEX OF SYNDROMES 213

Name Description Anaesthetic Implications Klippel-Feil syndrome Congenital fusion two or Difficult airway and intubation more cervical vertebrae leading to neck rigidity Klippel-Trenaunay Usually unilateral. Arteriovenous fistulae and anaemia lead syndrome ( angio- Arteriovenous fistulae to high cardiac output state. Thrombo- osteohypertrophy) thrombocytopenia. cytopenia in visceral haemangiomata (40) Laurence-Moon-Biedl Obesity, retinitis pigmen- May be associated with cardiac defects, syndrome tosa. Polydactyly. Mental renal disease and occasionally diabetes retardation insipidus ( 50 )

Larsens syndrome Multiple congenital dis- Possible difficult intubation. Chronic locations. Connective respiratory problems ( '28, 29) tissue defect. Poor car- tilage in rib cage, epi- glottis, arytenoids

Leopard syndrome Multiple large freckles. Ninety-five per cent pulmonary stenosis Congenital heart disease. ECG anomalies - aber- rant conduction. Hyper- telarism Leprechaunism Failure to thrive, endo- Hypoglycaemia due to hyperinsulinism crine disorders, severe from hyperplastic Islets of Langerhaus. mental retardation Renal tubular defects - impaired renal function ( 51 ) Lesch-Nyhan Hyperuricaemia and High serum uric acid leads to red cell syndrome mental retardation. Renal damage and renal stones. Care with failure by age ten renally excreted drugs (52) Letterer-Siwe disease Histiocytic granulomata Pancytopenia-anaemia and purpura ( histiocytosis X ) in viscera and bones. haemorrhage. Pulmonary infiltration. Clinical course similar to Hepatic involvement. Gingival inflam- acute leukaemia mation and necrosis, loss of teeth (43)

Lipodystrophy Generalized loss all body Liver failure - avoid halothane and ( total lipoatrophy) fat. Fatty, fibrotic liver. drugs metabolised by liver. Hyper- Portal hypertension and splenism - anaemia and thromboey- splenomegaly. Nephro- topenia. Possible renal failure. Usual pathy. Diabetes diabetic precautions (34)

Lowe syndrome Male only. , Check electrolyte and acid-base balance. ( oculocerebrorenal glaucoma, Mental Retar- Check serum Ca+ + (treated with Vit. syndrome) dation. Hypotonia. Renal D and Ca+ + ) Care with renally ex- acidosis, proteinuria, creted drugs (3, 53 ) osteoparosis and rickets Maffucci syndrome Enclaondromatosis and Pathological fractures. G.I. bleeding haemangiomata with from haenlangiomata. Orthostatic hypo- malignant change tension. May be sensitive to vasodilator drugs Maple-Syrup urine disturbance General supportive measures ( 54 ) disease ( branched treated by diet only. chain ketonuria ) Severe neurological damage and respiratory disturbances 214 CANADIAN ANAESTHETISTS' SOCIETY JOURNAL Name Description Anaesthetic Implications Marfan's syndrome dis- Care with myocardial depressant drugs. (arachnodactyly) order. Dilatation aortic Beware possible dissection of aorta. root leads to AI. Aortic, Lung function poor. Possible pneumo- thoracic or abdominal thorax. Care in positioning - easily aneurysm. Pulmonary dislocated joints (28, 29) artery, mitral valve in- volved. Kyphoscoliosis, pectus excavatum, lung cysts. Joint instability and dislocation

Maroteaux-Lamy Myocardial involvement. Heart failure by age 20. Care with car- syndrome ( mucopoly- Kyphoscoliosis and chest diac depressant drugs. Chronic respira- saccharidosis IV ) infection. Hepatospleno- tory infection with poor lung reserve. megaly Hypersplenism, anaemia, thrombo- cytopenia ( 29, 37 )

Meckel's syndrome Microcephaly, microgna- Intubation may be difficult. Cardiac thia and cleft epiglottis. problems. Renal failure in infancy - Congenital heart disease. care with renally excreted drugs Renal dysplasia Median cleft face Varying degrees of cleft Cleft nose, lip and palate may cause syndrome face. Frontal lipomas, intubation difficulties dermoids

MSbius syndrome Associated limb deformi- Feeding difficulties and aspiration may ( congenital facial ties, micrognathia cause chronic pulmonary problems. diplegia ) May be difficult to intubate

Morquio-Ullrich Severe dwarfing. Aortic Cardiorespiratory symptoms by 2 ~ syndrome ( naucopoly- incompetence. Thoracic decade. Severe kyphoscoliosis with saccharidosis IV) deformities. Unstable poor hmg fnnction. All develop spinal atlanto-axial joint cord damage from atlanto-occipital subluxation (29, 37, 88)

Moschkowitz disease Haemolytic anaemia and History of steroid therapy. Care with ( thrombotic thrombo- thrombocytopenia. Small renally excreted drugs if kidneys cytopenic purpura ) vessel disease. Neuro- affected ( 39 ) logical damage and renal disease. Treatment sple- neetomy and steroids

Myasthenia congenita Like adult myasthenia Avoid respiratory depressants, muscle gravis relaxants. May require post-op 1PPV. Problems of anticholinesterase therapy pre- and post-op. Possibility of cho- linergic crisis ( 55-57 )

Myositis ossificans Bony infiltration of ten- Airway and intubation problems if neck ( fibrodysplasia dons, fascia, aponenroses, rigid. Thoracic involvement leads to ossificans ) and muscle aspiration and asphyxia, lung pathology and grossly reduced thoracic compli- ance ( 29 )

Myotonia congenita Decreased ability to relax Avoid relaxants and depressants, as for ( Thomsens disease ) muscles after contraction. , though this is a Diffuse hypertrophy of more benign disease, non-progressive muscle (7-10) JONES & PELTON: INDEX OF SYNDROMES 215

Name Description Anaesthetic Implications Myotonic dystrophy Weakness and Avoid succinylcholine which causes (myotonia dystrophica) , , partial myotonia in 50 per cent. Nondepola- baldness and gonadal rizing drugs do not relax myotonia. atrophy. Cardiac conduc- Neostigmine induces myotonia. Monitor tion defects and arrhyth- ECG. Extremely sensitive to respira- mias. Impaired ventila- tory depressants, use regional or inhala- tion tional agents, IPPV post-op if necessary. Halothane may cause post-op shivering and myotonia. Pulmonary complications due to poor cough (7-10, 89)

McArdle disease Glycogen storage Muscles affected including cardiac Disease V muscle: care with cardiac depressant drugs ( 12 )

Neonatal Symptomatic hypo- Extreme care in monitoring blood glu- hypoglycaemia glycaemia in infancy - cose. Steroids, diazoxide and glucagon ( idiopathic ) convulsions, lethargy and as required. Afterpancreatectomy may mental retardation itun- require insulin andglucose to maintain treated. No ketosis. blood sugar in normal limits ( 17 ) Therapy subtotal pan- createctomy Niemann-Pick disease Sphingomyelin and cho- Anaemia and thrombocytopenia due to lesterol accumulation in marrow and spleen involvement. Pul- CNS, marrow, liver and monary insufficiency, pneumonia (84) spleen. Diffuse infiltra- tion of lungs. Epilepsy, ataxia and mental retar- dation

Noack's syndrome Craniosynostosis and May be difficult to intubate because of digital anomalies. skull deformity (13) Obesity

Noonan syndrome , mental Usually puhnonary stenosis or PDA, ( male Turner retardation, congenital tetralogy, ASD. Care with renally ex- syndrome ) heart disease, microgna- creted d,'ugs if kidneys affected (29) thia. Hydronephrosis or hypoplasia of kidneys

Olliers syndrome Multiple chondromata With cavernous haemangioma is de- ( ) within bones, usually scribed as Maffucci syndrome. Care unilateral. Pathological with positioning fractures

Oro-facial-digital Cleft lip and palate, Difficult airway and intubation. Possible syndrome lobed tongue. Hypoplas- renal failure - care with renally excreted tic mandible and maxilla. drugs ( 40 ) Digital anomalies. Hydrocephalus, poly- cystic kidneys

Osler-Weber-Rendu No coagulation abnor- Blood loss may be impossible to control. syndrome malities. Associated pul- I.V. may be difficult to maintain due to ( haemorrhagic monary A-V fistula poor tissues. More than 90 per cent have telangiectasia ) recurrent chest infection, dyspnoea, cyanosis, clubbing by age 60 (39) 216 CANADIANANAESTHETISTS' SOCIETY JOURNAL Name Description Anaesthetic Implications I. Congenita - stillborn Chest deformity leads to lung patholo- ( fragilitas ossium ) or rapidly fatal. gy. Fragile vessels lead to subcutaneous II. Tarda- Pathological haemorrhage. Dentin deficiency causes fractures. Osteoporosis carious and easily broken teeth. Ex- leads to kyphoscoliosis treme care in positioning (58)

Paramyotonia congenita Myotonia on exposure to Anaesthesia as for myotonic Dystrophy. (Eulenberg) cold. Paroxysmal weak- Also care with K+-level (7-10) ness. Serum K+ may be high or low

Patau syndrome Mental retardation 100 Difficult intubation. Usua|ly V.S.D. ( trisomy 13 ) per cent. Microcephaly, (27) micrognathia and/or dextracardia. Cleft lip or palate. Congenital heart disease. Usually fatal by three years

Pendred syndrome Deafness and goitre. In- May be euthyroid or hypothyroid. Make complete block of thy- sure euthyroid pre-op. Otherwise as roxine production for cretinism (26, 59 )

Phenylketonuda Phenyl alanine hydroxy- Inhalation induction and maintenance. lase deficiency. Vomiting, Continue anti-epileptic drugs. Tendency irritability, mental retar- to hypoglycaemia- 100 per cent Dex- dation, , con- trose infusion (60) vulsions. Very sensitive to narcotics and other CNS depressants

Pierre Robin syndrome Cleft palate, micro- Newborn may asphyxiate - nurse prone gnathia, . on frame. May require tongue suture, Associated congenital intubation or tracheostomy. May be heart disease may occur very difficult to intubate. Awake intu- bation ( 61 )

Polycystic kidneys One-third have associ- Care with renally excreted drugs. Be- ated cysts in liver, pan- ware hmg cysts: may lead to pneumo- creas, spleen, lungs, blad- thorax. Avoid hypertension because of der, thyroid. Cerebral possible cerebral aneurysm (62) aneurysm in 15 per cent

Polycystic liver Familial - 60 per cent Usually liver function not impaired until have polycystic kidneys, late - fibrosis, splenomegaly, oesopha- lung and geal varices, etc. Beware possible renal failure, lung cysts (62)

Polysplenia Bilateral visceral left Complex cardiac anomalies common: sidedness ( see also ASD and endocardial cushion defects. asplenia - converse ) Usually not so complex as in asplenia (25)

Pompe's disease Muscle deposits - severe Extreme care, avoidance respiratory de- ( glycogen storage II ) hypotonicity. Massive pressants, muscle relaxants, cardiac cardiomegaly. Death be- depressants. Large tongue may cause fore two years of age airway problem (12) JONES & PELTON: INDEX OF SYNDROMES 217

Name Description Anaesthetic Implications Porphyria Paralyses, psychiatric Avoid barbiturates including thiopen- disorder. Autonomic im- tone. Sedatives - meprobamate, ]ib- balance - hypertension, rium, glutethimide, carbromal. Hy- tachycardia. Abdominal droxydione ( steroid anaesthetic) Nike- pain precipitated by thamide. Hydantoin derivatives. Sul- drugs, infections, etc. phonamides. Antipvretics. Hypoglycae- mic agents. Have been used safely: chlorpromazine, promazine, prometha- zinc. chloral, propanidid, morphine, pethidine. Procaine. N20. Ether. Suc- cinylcholine, 4-tubocurarine, gallamine. Atropine and neostigmine. Pentolinium (37) Prader-Willi syndrome Neonate - hypotonia, Obesity of extreme proportions leading poor feeding, absent re- to cardio-pulmonary failure (63) flexes. Second phase - hyperactive, .uncontrol- lable polyphagia, mental retardation Progeria Premature ageing starts Anaesthesia as for adults with myo- ( Hutchinson-Gilford 6 months-3 years. Car- cardial ischaemia ( 64 ) syndrome ) diac disease - ischaemia, hypertension, cardio- megaly Prune Belly syndrome Agenesis of abdominal Poor cough - respiratory infections. musculature with renal Respiration requires use of accessory anomalies muscles. Treat as full stomach. Intubate and assist or control ventilation. Avoid muscle relaxants. Beware possible renal failure ( 65 )

Pyle's disease Cranio{acial abnormali- No described anaesthetic problem (66) ( ) ties. Enlarged mandible. Cranial N. paralyses Rieger syndrome Myotonic dystrophy and Anaesthetic requirements dictated by other . Hypo- associated muscle disease - see amyo- plasia or maxilla, ab- toria congenita, myotonic dystrophy normal teeth, mental (7-10) retardation. Occasional imperforate anus Riley-Day syndrome Deficiency of dopamine Emotional lability. Recurrent aspiration, (familial hydroxylase. Hyper- and pneumonia and chronic lung disease. dysautonomia ) hypo-tensive attacks, ab- Labile blood pressure - care with sent lacrimation, abnor- halothane etc. Sensitive to adrenergic mal sweating. Insensitive and cholinergic drugs. Pre- to pain. Poor suckling - atropine and chlorpromazine. Respi- and swallowing ratory centre insensitive to CO_. - need IPPV. Avoid respiratory depressants (67, 90) Rubinstein syndrome Mental retardation, mi- Repeated aspiration leads to pneumonia crocephaly. Frequent and chronic lung disease (68) chest infections. Swal- lowing abnormality. Con- genital heart disease 218 CANADIAN ANAESTHETISTS'SOCIETY JOURNAL

Name Description Anaesthetic Implications San-Filippo syndrome CNS malfunction in No anaesthetic problems described. ( mueopolysaccharidosis childhood progresses to Emotional disturbance, agitation and m) mental retardation and dementia (29, 37) dementia. No hepatos- plenomegaly or cardiac problems

Scheie disease Corneal clouding, hernias Aortic incompetence by third decade. (mucopolysaccharidosis Joint stiffness especially Joint stiffness - care in positioning v) hands and feet. Aortic (29,37) valve involvement

Seleroderma Diffuse cutaneous stiff- Scarring face and mouth- difficult air- ening. Plastic surgery way and intubation. Chest restriction required for contractures - poor compliance. Diffuse pulmonary and constrictions fibrosis - hypoxia. Veins - often invisible and impalpable. Cardiac fibrosis or corpulmonale. History of steroid therapy (69)

Sebaceous naevi Linear naevi from fore- Cardiovascular complications ( 40 ) ( linear ) head to nose. Hydro- cephalus, mental retard- ation, associated with coarctation and hypo- plasia of aorta

Shy-Drager syndrome Orthostatic hypotension. Labile pulse and blood pressure possibly Diffuse degeneration of due to defective baroreceptor response C.N.S., and autonomic - avoid methoxyflurane, cyclopropane NS. Decreased sweating. and ether. Cautious use of halothane. Hypersensitive to angio- Treat hypotension with infusion Neo- tensin and epinephrine synephrine ( 70 )

Silver syndrome Short stature, skeletal Possibly difficult intubation ( 91 ) asymnaetry. Microgna- thia. Abnormal sexual development

Sipple syndrome Phaeochromocytoma Management of phaeochromocytoma. ( multiple endocrine and medullary thyroid ( 75 per cent bilateral). Problems of adenomatosis type II ) carcinoma. Parathyroid multiple endocrine disorders (71) adenoma, CNS turnouts. Schwannoma of media- stinum associated. Cush- ing's disease

Smith-Lemli-Opitz Mental retardation. Geni- Airway and intubation problems. syndrome tal and skeletal anoma- Pneumonia, possible increased suscep- lies - lnicrognathia. tibility to infection ( 91 ) Thymic hypoplasia

Sotos syndrome Acromegalic features. Di- All features non-progressive. Possible ( cerebral gigantism ) lated ventricles but nor- airway problems due to acromegalic mal intracranial pressure skull. No other described problems (91) 219

Name Description Anaesthetic Implications Stevens-Johnson Erythema multiforme, Oral lesions - avoid intubation, oeso- syndrome urticarial lesions and phageal stethoscope. Monitoring diffi- erosions of mouth, eyes cult because of skin lesions but essential. genitalia. Possibly hyper- ECG - fibrillation, myocarditis, peri- sensitivity to exogenous carditis occur. Temperature control - agents. (Drugs, infec- febrile episodes. Intravenous infusion - tions, etc, ) essential but avoid cut-d0wn, because of infection. Ketamine probably best anaesthetic. Pleural blebs and pneu- mothorax may occur (72)

Sturge-Weber Cavernous angioma over No specific anaesthetic problems (73) syndrome 1-3 divisions. Vth cranial nerve. Intracranial calci- fication, convulsions and maybe progressive neu- rological deficit Supravalvular aortic Hypercalcaemia and Fixed cardiac output and ischaemia. stenosis syndrome mental retardation. Ab- History of steroids. Monitor serum ( idiopathic infantile normal facies. Cardiac - Ca++ (74) hypercalcaemia) dyspnoea, angina. ( William's syndrome ) Therapy, low calcium diet, steroids. Cardiac surgery Tangier disease (anal- Low sertma cholesterol. Anaemia and thrombocytopenia due to phalipoprotinaemia ) Orange tonsils and rectal hypersplenism. Abnormal EMG - care mucosa. Splenomegaly. with muscle relaxants. Beware prema- 50 per cent neurological ture ischaemic heart disease (34) abnormality. Premature coronary disease

Tay-Sach's disease Gangliosidosis. Blindness No described anaesthetic hazard. Pro- and progressive dementia gressive neurological loss leads to res- and degeneration of cen- piratory complications. Supportive tral nervous system measures only treatment ( 34 )

Thomsen's disease See

Thrombocytopenia Episodic thrombocyto- Platelet transfusion for surgery or with absent radius penia precipitated by bleeding ( 35-40 per cent die in first stress, infection, surgery, year of intracranial haemorrhage). etc. Low platelets im- Avoid elective surgery in first year (75) prove to normal by adult- hood. Congenital heart disease in 30 per cent

Treacher Collins Micrognathia and aplas- Possible airway and intubation difficul- syndrome tic zygomatic arches. ties. Less severe than Pierre Robin ( mandibulo-facial Microstomia, ehoanal deformity ( 61 ) dysostosis ) atresia. Congenital heart disease may occur

Tuberous sclerosis Adenoma sebaceum of Kidneys - pyelonephritis and renal skin, epilepsy and mental failure. Care with renally excreted retardation. Intracranial drugs. Lungs - possible rupture of lung calcification in 50 per cysts. Possible cardiac (76) cent. Hamartomas in lungs, kidneys, heart 220 CANADIAN ANAESTHETISTS' SOCIETY JOURNAL Name Description Anaesthetic Implications Turner's syndrome XO chromosome. Micro- Possibly dimcult intubation. Cardio- gnathia, Coarctation, dis- vascular abnormality. Possible renal secting aneurysm of aorta disease - care with renally excreted or pulmonary stenosis. drugs ( 77 ) Renal anomalies in more than 50 per cent

Urbach-Wiethe disease Type of histiocytosis ( see Cautious intubation ( 43 ) ( eutaneous-mueosal Hand-Sehiiller-Christian hyalinosis ) disease). Hoarseness or aphonia. Hyaline deposits in larynx and pharynx

Von Cierke's disease Glycogen storage disease Monitor blood sugar and acid-base I. Hepatomegaly, en- balance (I.V. glucose infusion). Diaz- larged kidneys, severe at- oxide for hypoglycaemia ( 12 ) tacks of hypoglycaemia von-Hippel-Lindau Retinal or CNS haeman- Problems those of associated phaeo- syndrome gioblastoma. ( Posterior chromocytoma, renal and hepatic fossa or spinal cord). pathology ( 71 ) Associated with phaeo- chromocytoma, renal, pancreatic, or hepatic cysts von-Recklinghausen Caf6-au-lait spots. Tu- Screen for phaeochromocytoma (urinary disease nrours all parts CNS. VMA ). Should be investigated for lung ( ) Peripheral tumonrs as- function. T umours may occur in the sociated with nerve larynx and right ventricle outJlow tract. trunks. Increased inci- Care with renally excreted drugs if dence phaeochromocy- kidneys involved. ( 78, 79) toma. Fifty per cent Ky- phoseoliosis. Honeycomb cystic hmg changes. Renal artery dysplasia and hypertension von ~,Villebrand's Prolonged bleeding time Bleeding can be controlled by fresh or disease ( decreased factor ~'III fresh frozen plasma, cryopreeipitate. ( psendohaemophilia ) activity) due to defective Avoid salicylate therapy ( effect on .~latelet adhesiveness. platelets, possible GI bleeding) (39) Capillary abnormality

Weber Christian Necrosis of fat, in any Involvement of retroperitoneal tissues disease ( chronic situation including retro- may cause acute o1' chronic adrenal in- non-suppurative peritoneal, pericardial, sufficiency, of pericardium leads to re- panniculitis ) meningeal strictive pericarditis, of meninges causes convnlsions. Avoid trauma to fat by heat, cold or pressure ( 80 )

Welander muscular Initial involvement peri- May require spinal fusion. Extreme care atrophy pheral muscles. Prognosis with thiopentone, muscle relaxants. good for life, pool' for Avoid respiratory depressant drugs ambulation (7-10) 221

Name Description Anaesthetic Implications Werdnig-Hoffman Infantile muscular atro- Chronic respiratory problems. Minimal disease phy more severe than anaesthesia required. Avoid muscle Welander. Feeding diffi- relaxants and respiratory depressant culties, aspiration, usua]ly drugs. Ventilatory support may be death before puberty required and weaning may be difficult (7-10)

Werner syndrome Premature ageing, dia- Anaesthesia as for adult with myo- betes. Early cataracts. cardial ischaemia (29) Mental retardation in 50 per cent. Bony lesions like osteomyelitis. Cardiac infarction and failure

Wermer syndrome Hyperparathyroidism. Renal failure due to stones. Hypo- ( multiple endocrine Tumours of pituitary and glycaemia from hyperinsulinism (81) adenomatosis type I ) pancreatic islet cells. Gas- tric ulcer. Occasionally have carcinoid tumours of bronchial tree

Wilson's disease Decreased ceruloplasmin Hepatic failure due to fibrosis. Thiopen- ( hepatolenticular causes abnormal copper tone may be used in small doses. Muscle degeneration ) deposits especially in relaxants - succinylcholine apnoea rare liver, and CNS motor despite pseudocholinesterase reduction. nuclei. Renal tubular d-Tubocurarine - short action due to acidosis globin binding. Care with renally excreted drugs ( 37, 82 )

Wilson-Mikity Prematurity < 1500 gm Right heart faihue. Repeated chest syndrome birth weight. Severe infection and aspiration. Use of steroids chronic lung disease lead- to prevent pulmonary fibrosis (8.3, 84) ing to fibrosis and cystic areas aetiology- ? oxy- gen toxicity

Wiskott-Aldrieh Inanaunodeficiency with Blood transfusion and platelets may be syndrome thrombocytopenia. One required. Bone marrow transplantation hundred per cent have has been used. All blood products nmst low platelets, al)sent iso- be irradiated with 3,000 rads. to prevent haenaagglntinins. High graft-vs.-host reaction. Avoid contam- lgA, low IgM. Eczema, ination - often die from generalized asthma herpes or infection by not-pathogenic organisms ( 39 )

Wo]ff-Parkinson-White ECG abnormality - Short Hyoscine preferred to atropine as dry- syndrome P.R., prolonged QRS ing agent. Taehycardia due to atropine with phasic variation in or apprehension may change ECG and 40 per cent. Associated suggest infarction, with ST segment with many cardiac de- depression. Paroxysmal SVT on induc- fects. Anomalous conduc- tion of anaesthesia or during cardiac tion path between atria surgery has been reported. Should be and ventricles treated with digitalis, propranolol, pace- maker if necessary. Neostigmine accentuate W-P-W- pattern ma(85y ) 222 CANADIAN ANAESTHETISTS' SOCIETY JOURNAL Name Description Anaesthetic Implications Wolman's disease Adrenal calcification. Anaemia, thrombocytopenia. Platelet (familial Resembles Niemann- transfusion only successful post- xanthomatosis ) Pick disease with hepato- splenectomy (34) splenomegaly and hyper- splenism. Involvement other tissues from foam cells, including myocar- dium

Aerocephalosyndactyly - Apert S. Albinism - Chediak-Higashi S., Hermansky S. Amaurosis congenita - Leber S. Anhidrotic ectodermal dysplasia - Christ-Siemens-Touraine Bournville's disease - Branched chain Ketamuria - Maple-Syrup urine D. Cardio-Auditory S. - Jervell-Nielson S. Cerebrohepatorenal S. - Bowens S. Chondrodystrophies - Conradi S., Ellis-van-Creveld S. Connective tissue disorders - Cutis Laxa, Ehlers Danlos S., Groenblad-Strandberg S., Marfans S. Cranial synostoses - Apert S., Carpenters S., Chotzen S., Crouzon S., Noack S. Enchondromatoses - Maffucci S., Olliers S. Eulenberg disease - Familial dysautonomia - Riley Day S. Fragilitas Ossium - Osteogenesis imperfecta Glycogen Storage Diseases - I Von Gierke, II Pompe, III Forbes, IV Andersen, V McArdle, VI Hers, VII Lewis Goitre- Cretinism, Pendred's S. Heart and Hand S. - Hold-Oram S. haem0rrhagic telangiectasia - 0sler-Weber-Rendu S. Heptaolenticular degeneration - ~Vilsons D. Histiocytosis X Syndromes - Hand Schiil]er-Christian, Letterer-Siwe, Urbach-Wiethe Homogentisic-Aciduria - Alkaptonuria Hutchinson-Gilford S. - Progeria Idiopathic Infantile Hypercalaemia - See Supravalvu]ar aortic stenosis syndrome Imnaunodeficiency Syndromes - Ataxia - telangiectasia, Chediak-Higashi, Chronic granulomatous disease, Wiskott-Aldrich S. Lipid storage diseases - Fabry's disease, Gauchers disease, Niemann-Pick disease, Tay-Sacks disease, Wolman's disease Lipogranulomatosis - Farber's disease Louis-Bar disease - Ataxia Telangiectasia Mandibulo-Facial dysostosis - Treacher-Collins Syndrome Marble-hone disease - Albers SchSnberg Mongolism - Down's syndrome Mucopolysaccharidoses - I Hurler, II Hunter, III San Filippo, IV Morquio-Ullrich, V Scheie, VI Maroteaux-Lamy Multiple Endocrine Adenomatosis - I Wermer Syndrome, II Sipp]e Syndrome Muscular atrophy - amyotonia congenita, Welanders muscular atrophy, Werdnig-Hoffman disease Muscular dystrophy - Duehenne, Central core ( Shy Magee ), Reigers S. Myotonie syndromes - Myotonia congenita, dystrophia myotonica, Reigers S. Neonatal hypoclycaemia - Beckwith syndrome, Idiopathic, Glycogen-storage disease esp. Pompe's Neurofibromatosis - Oculoauricnlovertebral S. - Goldenhar S. Oeulocerebrorenal S. - Lowe S. Phaeochromoeytoma - Sipple S., von-Hippel-Lindau S., yon Reeklinghausen S. - Albright's Renal Tubular Acidosis - Albright Butler S., Fanconi S., Lowes S. Shy-Magee- Total lipoatrophy - Lipodystrophy JONES & PELTON: INDEX OF SYNDROMES 223 Telangiectasia - Ataxia telangiectasis, Osler-Weber-Rendu S. Thrombasthenia- Glanzmann's disease Thrombotic thrombocytopenic purpura - Moschkowitz disease

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